GÖKCAN ÖZTÜRK PELİN ALTINBEZER MERVE KOÇ YEKEDÜZ ENGİN KÖSE TANIL KENDİRLİ FATMA TUBA EMİNOĞLU
Ankara Üniversitesi Tıp Fakültesi Mecmuası - 2023;76(3):287-290
Methylmalonic acidemia (MMA) is an autosomal recessive disorder that may be caused by a complete (mut0) or partial (mut-) deficiency of the methylmalonyl-CoA mutase, by defects in the synthesis or transport of the co-factor, or by a deficiency in methylmalonyl-CoA epimerase. Most patients with MMA present with such signs and symptoms as lethargy, feeding problems, tachypnea and hypotonia after breastfeeding within the first few days or weeks of life. In untreated cases, life-threatening acidosis, hyperammonemic encephalopathy, coma and death can occur. In the present study we emphasize the importance of the early suspicion of inherited metabolic disorders in the differential diagnosis and treatment of an MMA case who applied to the emergency department with atypical clinical findings after the age of 1, and who rapidly developed coma findings. Although MMA frequently presents itself during the first days of life, it should be kept in mind in the differential diagnosis of metabolic acidosis, especially in older patients with a high risk of inherited metabolic disorders and with atypical clinical and laboratory findings.
